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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-111728599-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=111728599&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 111728599,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363540.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5603C>A",
"hgvs_p": "p.Thr1868Lys",
"transcript": "NM_001363540.2",
"protein_id": "NP_001350469.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1975,
"cds_start": 5603,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428084.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363540.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5603C>A",
"hgvs_p": "p.Thr1868Lys",
"transcript": "ENST00000428084.6",
"protein_id": "ENSP00000410746.1",
"transcript_support_level": 5,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1975,
"cds_start": 5603,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363540.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428084.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5576C>A",
"hgvs_p": "p.Thr1859Lys",
"transcript": "ENST00000437633.6",
"protein_id": "ENSP00000404179.1",
"transcript_support_level": 1,
"aa_start": 1859,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5576,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437633.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.3842C>A",
"hgvs_p": "p.Thr1281Lys",
"transcript": "ENST00000423057.6",
"protein_id": "ENSP00000412834.1",
"transcript_support_level": 1,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3842,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423057.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5672C>A",
"hgvs_p": "p.Thr1891Lys",
"transcript": "ENST00000445943.5",
"protein_id": "ENSP00000397412.1",
"transcript_support_level": 5,
"aa_start": 1891,
"aa_end": null,
"aa_length": 1998,
"cds_start": 5672,
"cds_end": null,
"cds_length": 5997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445943.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5576C>A",
"hgvs_p": "p.Thr1859Lys",
"transcript": "NM_014705.4",
"protein_id": "NP_055520.3",
"transcript_support_level": null,
"aa_start": 1859,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5576,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014705.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2369C>A",
"hgvs_p": "p.Thr790Lys",
"transcript": "ENST00000658652.1",
"protein_id": "ENSP00000499282.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 897,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000658652.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2225C>A",
"hgvs_p": "p.Thr742Lys",
"transcript": "ENST00000450156.6",
"protein_id": "ENSP00000406468.2",
"transcript_support_level": 4,
"aa_start": 742,
"aa_end": null,
"aa_length": 849,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450156.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2022C>A",
"hgvs_p": "p.His674Gln",
"transcript": "ENST00000664131.1",
"protein_id": "ENSP00000499490.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 680,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664131.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5696C>A",
"hgvs_p": "p.Thr1899Lys",
"transcript": "XM_017012819.2",
"protein_id": "XP_016868308.1",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
"aa_length": 2006,
"cds_start": 5696,
"cds_end": null,
"cds_length": 6021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012819.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5669C>A",
"hgvs_p": "p.Thr1890Lys",
"transcript": "XM_017012820.2",
"protein_id": "XP_016868309.1",
"transcript_support_level": null,
"aa_start": 1890,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5669,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012820.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5642C>A",
"hgvs_p": "p.Thr1881Lys",
"transcript": "XM_017012821.2",
"protein_id": "XP_016868310.1",
"transcript_support_level": null,
"aa_start": 1881,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5642,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012821.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5636C>A",
"hgvs_p": "p.Thr1879Lys",
"transcript": "XM_017012822.2",
"protein_id": "XP_016868311.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5636,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012822.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5615C>A",
"hgvs_p": "p.Thr1872Lys",
"transcript": "XM_047421078.1",
"protein_id": "XP_047277034.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5615,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421078.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5609C>A",
"hgvs_p": "p.Thr1870Lys",
"transcript": "XM_047421079.1",
"protein_id": "XP_047277035.1",
"transcript_support_level": null,
"aa_start": 1870,
"aa_end": null,
"aa_length": 1977,
"cds_start": 5609,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421079.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5582C>A",
"hgvs_p": "p.Thr1861Lys",
"transcript": "XM_017012823.2",
"protein_id": "XP_016868312.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 1968,
"cds_start": 5582,
"cds_end": null,
"cds_length": 5907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012823.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5555C>A",
"hgvs_p": "p.Thr1852Lys",
"transcript": "XM_017012824.2",
"protein_id": "XP_016868313.1",
"transcript_support_level": null,
"aa_start": 1852,
"aa_end": null,
"aa_length": 1959,
"cds_start": 5555,
"cds_end": null,
"cds_length": 5880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012824.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5528C>A",
"hgvs_p": "p.Thr1843Lys",
"transcript": "XM_017012825.2",
"protein_id": "XP_016868314.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1950,
"cds_start": 5528,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012825.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5522C>A",
"hgvs_p": "p.Thr1841Lys",
"transcript": "XM_047421081.1",
"protein_id": "XP_047277037.1",
"transcript_support_level": null,
"aa_start": 1841,
"aa_end": null,
"aa_length": 1948,
"cds_start": 5522,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421081.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5489C>A",
"hgvs_p": "p.Thr1830Lys",
"transcript": "XM_006716189.3",
"protein_id": "XP_006716252.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1937,
"cds_start": 5489,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716189.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5375C>A",
"hgvs_p": "p.Thr1792Lys",
"transcript": "XM_024447006.2",
"protein_id": "XP_024302774.1",
"transcript_support_level": null,
"aa_start": 1792,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5375,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447006.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "n.1452C>A",
"hgvs_p": null,
"transcript": "ENST00000486186.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486186.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "n.411C>A",
"hgvs_p": null,
"transcript": "ENST00000494769.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494769.1"
}
],
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"dbsnp": "rs781493990",
"frequency_reference_population": 0.0000020523962,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020524,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12177908420562744,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.5412,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.015,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363540.2",
"gene_symbol": "DOCK4",
"hgnc_id": 19192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5603C>A",
"hgvs_p": "p.Thr1868Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}